Explanipedia

Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis Open

Marta Bertamino, Lisa R. Sun, Jane Beckwell, Ruth du Moulin, Carlos R. Ferreira · 2025

Background ABCC6 deficiency is caused by variants in the ABCC6 gene, leading to dysfunction of the ABCC6 protein. This can result in the development of the infantile phenotype, generalized arterial calcification of infancy type 2 (GACI2), …

Disruption of the FGFR1-FGF23-Phosphate Axis and Targeted Therapy in a Murine Model of Osteoglophonic Dysplasia Open

Giuliana Ascone, Rajdeep Kaur, Arya E. Mehran, Irene Ginty, Arthur MacLarty , et al. · 2025

Osteoglophonic Dysplasia (OGD) is an autosomal dominant skeletal dysplasia characterized by impaired bone growth resulting in short stature, severe craniofacial abnormalities, and in some patients FGF23-mediated hypophosphatemia. It is cau…

The genotypic and phenotypic landscape of <i>PDHA1</i> -related pyruvate dehydrogenase complex deficiency Open

Kajus Merkevičius, René G. Feichtinger, Kei Murayama, Sabine Schröder, Peter Bauer , et al. · 2025

This retrospective study on X-linked PDHA1-related pyruvate dehydrogenase complex (PDHc) deficiency combined a systematic literature review with a multicenter survey exploring genotypes, phenotypes, and survival. Data from 891 individuals …

A proposed nosology of inherited disorders of the extracellular matrix (ECM): Insights from the IEMbase and dyadic classification Open

Giulio Marcionelli, Carlos R. Ferreira, Marianne Rohrbach · 2025

SUN-747 PTH1R Mosaicism In Jansen Metaphyseal Chondrodysplasia Open

Wasim Abbas, Carlos R. Ferreira, Nataliya Balatska, Giedré Grigelioniené, Karin Baltzer Sollander , et al. · 2025

Disclosure: W. Abbas: None. C.R. Ferreira: None. N. Balatska: None. G. Grigelioniene: None. K. Baltzer Sollander: None. L. Bliss: None. M. Motevalli: None. H. Jüppner: None. A.M. Boyce: None. S. Jha: None. Background: Jansen Metaphyseal Ch…

Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status Open

Kendall A. Flaharty, V. Chandrasekar, Inmaculada Castillo, Dat Duong, Carlos R. Ferreira , et al. · 2025

Deep learning (DL) is increasingly used to analyze medical imaging, but is less refined for rare conditions, which require novel pre‐processing and analytical approaches. To assess DL in the context of rare diseases, this study focused on …

Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated Open

D. B. Peacock, Carlos R. Ferreira, Gabriella Horváth, Georg F. Hoffmann, Nenad Blau , et al. · 2025

Movement disorders are a common manifestation of inherited metabolic diseases (IMDs), categorized into hyperkinetic movement disorders, hypokinetic-rigid syndromes, ataxia, and spasticity. We reviewed and updated the list of known metaboli…

Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status Open

Kendall A. Flaharty, V. Chandrasekar, Inmaculada Castillo, Dat Duong, Carlos R. Ferreira , et al. · 2025

Deep learning (DL) is increasingly used to analyze medical imaging, but is less refined for rare conditions, which require novel pre-processing and analytical approaches. To assess DL in the context of rare diseases, we focused on alkapton…

Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2 Open

Carlos R. Ferreira, Mary E. Hackbarth, Yvonne Nitschke, Ulrike Botschen, Rachel I. Gafni , et al. · 2025

Generalized arterial calcification of infancy (GACI) and autosomal recessive hypophosphatemic rickets type 2 (ARHR2) are age-related phenotypes of the rare genetic mineralization disorder, ENPP1 Deficiency, which evolve on a phenotypic con…

Clinical and biochemical footprints of inherited metabolic diseases: XVII. Dysmorphisms Open

Carol L. Greene, Sofia Saenz-Ayala, Erin T. Strovel, Francis Rossignol, Carlos R. Ferreira , et al. · 2024

Dysmorphisms, or physical abnormalities in appearance, can vary in frequency and severity among individuals with inherited metabolic disorders (IMD). The prevalence of dysmorphisms in these disorders can range from rare occurrences to more…

Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations Open

Fiona Obiezu, Konstantinia Almpani, Hung Jeffrey Kim, Christopher Zalewski, Emily Y. Chu , et al. · 2024

Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by constitutive activation of parathyroid hormone type 1 receptor (PTH1R). We sought to characterize the craniofacial phenotype of patients with the disease. Six pa…

Commentary on: The use of burosumab to treat autosomal-recessive hypophosphatemic rickets type 2: rationale and a first clinical experience Open

Frank Rutsch, Isidro B. Salusky, Carlos R. Ferreira · 2024

Ocular findings in Jansen metaphyseal chondrodysplasia Open

Fiona Obiezu, Maria Teresa Magone De Quadros Costa, Laryssa A. Huryn, Kristen S. Pan, Konstantinia Almpani , et al. · 2024

Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by germline heterozygous PTHR1 variants resulting in constitutive activation of parathyroid hormone type 1 receptor. A description of ocular manifestations of the d…

Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology Open

Bobby G. Ng, Hudson H. Freeze, Nastassja Himmelreich, Nenad Blau, Carlos R. Ferreira · 2024

Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC) Open

Elisa A. Ferrante, Cornelia Cudrici, Mahmood Rashidi, Yi‐Ping Fu, Rebecca D. Huffstutler , et al. · 2024

Background: Arterial calcification due to deficiency of CD73 (ACDC; OMIM 211800) is a rare genetic disease resulting in calcium deposits in arteries and small joints causing claudication, resting pain, severe joint pain, and deformities. C…

P676: Deciphering the collagen code: Navigating variant curation complexities in skeletal disorders Open

Pamela Ajuyah Robertson, Alicia B. Byrne, Julie Ratliff, Audrey O’Neill, Marina T. DiStefano , et al. · 2024

The ClinGen Genome Resource (ClinGen) is an NIH-funded initiative developing authoritative resources to define variant pathogenicity and clinical validity of gene-disease relationships. The ClinGen Skeletal Disorders Expert Panels were for…

Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities Open

Eoghan Dunlea, Ellen Crushell, Melanie Cotter, Nenad Blau, Carlos R. Ferreira · 2023

Many classical inherited metabolic diseases (IMDs) are associated with significant hematological complications such as anemia or thrombosis. While these may not be the prominent presenting feature of these conditions, management of these i…

ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency Open

Carlos R. Ferreira, Thomas O. Carpenter, Demetrios T. Braddock · 2023

The enzyme ectonucleotide pyrophosphatase/phosphodiesterase 1 ( ENPP1) codes for a type 2 transmembrane glycoprotein that hydrolyzes extracellular ATP to generate pyrophosphate (PP i ) and adenosine monophosphate, thereby contributing to d…

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature Open

Francesca Peluso, Stefano Giuseppe Caraffi, Gianluca Contrò, Lara Valeri, Manuela Napoli , et al. · 2023

Background KBG syndrome is caused by haploinsufficiency of ANKRD11 and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and …

Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases Open

Anke Schumann, Ulla T. Schultheiß, Carlos R. Ferreira, Nenad Blau · 2023

Kidney disease is a global health burden with high morbidity and mortality. Causes of kidney disease are numerous, extending from common disease groups like diabetes and arterial hypertension to rare conditions including inherited metaboli…

Identification of potential non-invasive biomarkers in diastrophic dysplasia Open

Chiara Paganini, Ricki Carroll, Chiara Gramegna Tota, Andrea J. Schelhaas, Alessandra Leone , et al. · 2023

Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects Open

Lonneke de Boer, Alessandra Cambi, Lilly M. Verhagen, Paola de Haas, Clara D.M. van Karnebeek , et al. · 2023

EXTENSIVE SUBRETINAL FIBROSIS ASSOCIATED WITH PSEUDOXANTHOMA ELASTICUM Open

Enny Oyeniran, Henry E. Wiley, Sunil Bellur, H. Nida Sen, Carlos R. Ferreira , et al. · 2023

Purpose: The purpose of this study was to report an unusual case of pseudoxanthoma elasticum presenting with an inflammatory phenotype associated with atypical and rapidly progressive subretinal fibrosis. Methods: This was an observational…

Nosology of genetic skeletal disorders: 2023 revision Open

Sheila Unger, Carlos R. Ferreira, Geert Mortier, Houda Ali, Débora Romeo Bertola , et al. · 2023

The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technolo…

Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms Open

Denise Salazar, Karen M. Kloke, Rubén Bonilla Guerrero, Carlos R. Ferreira, Nenad Blau · 2023

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system Open

Shyam K. Akula, Jack H. Marciano, Youngshin Lim, David Exposito-Alonso, Norma K. Hylton , et al. · 2023

Sonic hedgehog signaling regulates processes of embryonic development across multiple tissues, yet factors regulating context-specific Shh signaling remain poorly understood. Exome sequencing of families with polymicrogyria (disordered cor…

Continuing a search for a diagnosis: the impact of adolescence and family dynamics Open

Ilana Miller, Beverly M. Yashar, Maria T. Acosta, Margaret P Adam, David R. Adams , et al. · 2023

The “diagnostic odyssey” describes the process those with undiagnosed conditions undergo to identify a diagnosis. Throughout this process, families of children with undiagnosed conditions have multiple opportunities to decide whether to co…

Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives Open

Ana Piedade, Rita Francisco, Jaak Jaeken, Peymaneh Sarkhail, Sandra Brasil , et al. · 2022

Background and aim Congenital disorders of glycosylation (CDG) are a large heterogeneous group of about 170 rare inherited metabolic disorders due to defective protein and lipid glycosylation. This study aimed to assemble and summarise ava…

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases Open

Lauren Chunn, Jeffrey Bissonnette, Stefanie V. Heinrich, Stephanie A. Mercurio, Mark J. Kiel , et al. · 2022

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study Open

Lucy Loong, Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T. Pagnamenta , et al. · 2022

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